Canonical Allele Identifier: CA348047423

Gene: EDAR RANBP2

Linked Data

• gnomAD v4: 2-108896914-G-A
• MyVariant Identifiers: chr2:g.109513370G>A (hg19) ; chr2:g.108896914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.108896914G>A , CM000664.2:g.108896914G>A	GRCh38
NC_000002.11:g.109513370G>A , CM000664.1:g.109513370G>A	GRCh37
NC_000002.10:g.108879802G>A	NCBI36
NG_008257.1:g.97459C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258443.7:c.1340C>T (EDAR) MANE Select	ENSP00000258443.2:p.Ala447Val
ENST00000258443.6:c.1340C>T (EDAR)	ENSP00000258443.2:p.Ala447Val
ENST00000376651.1:c.1436C>T (EDAR)	ENSP00000365839.1:p.Ala479Val
ENST00000409271.5:c.1436C>T (EDAR)	ENSP00000386371.1:p.Ala479Val
NM_022336.3:c.1340C>T (EDAR)	NP_071731.1:p.Ala447Val
XM_006712204.1:c.1436C>T (EDAR)	XP_006712267.1:p.Ala479Val
XM_011510502.1:c.1487C>T (EDAR)	XP_011508804.1:p.Ala496Val
XM_011510503.1:c.1391C>T (EDAR)	XP_011508805.1:p.Ala464Val
XM_011510504.1:c.767C>T (EDAR)	XP_011508806.1:p.Ala256Val
XM_011510502.2:c.1580C>T (EDAR)	XP_011508804.2:p.Ala527Val
XM_011510503.2:c.1484C>T (EDAR)	XP_011508805.2:p.Ala495Val
XM_017004623.2:c.8370+123868G>A (RANBP2)	XP_016860112.1:n.8370+123868G>A
NM_022336.4:c.1340C>T (EDAR) MANE Select	NP_071731.1:p.Ala447Val